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1/200 people have mito dysfunction

New Research Shows One in 200 People Born with DNA Mutation That Can
Lead to Devastating, Often Fatal Disease
Monday, August 11, 2008 11:21 AM
http://www.istockan alyst.com/ article/viewiSto ckNews+articleid _2499545. html

Mutation Causing Mitochondrial Disease More Common Than Previously
Believed

PITTSBURGH, Aug. 11 /PRNewswire- USNewswire/ -- The United
Mitochondrial Disease Foundation (UMDF) today announced landmark
research finding that one in every 200 people has a DNA mutation that
could potentially cause a mitochondrial disease in them or their
offspring. Mitochondrial disease is a devastating and often fatal
disease, and mitochondrial disorders are at the core of many well
known diseases and chronic illnesses, such as Alzheimer's disease,
Parkinson's disease and autism spectrum disorders. This research,
which was partially funded by UMDF, was conducted by Patrick Chinnery,
MBBS, PhD, MRCPath, FRCP, Wellcome Senior Fellow in Clinical Genetics
and professor of neurogenetics at Newcastle University in the UK. Dr.
Chinnery's findings are published in the current issue of the American
Journal of Human Genetics.

'This ground breaking discovery confirms what researchers and experts
have believed for some time - mitochondrial disease is not rare,' said
Charles A. Mohan, Jr., Executive Director and CEO of UMDF. 'We now
know that 1 in 200 people carry the mutation for this horrible,
debilitating disease. This discovery underscores the need for
additional research funding to help better diagnose and treat affected
individuals and to learn more about how mitochondrial dysfunction is
connected to other diseases.'

Mitochondrial diseases are extremely complicated and often go
undiagnosed or misdiagnosed for years. They develop when the
mitochondria - the body's main energy source - do not function
properly. Mitochondria are responsible for creating more than 90
percent of the energy needed by the body to sustain life and support
growth. Because they are in almost all human cells, this 'power
failure' results in disease that can affect almost any body tissue.
Therefore, the severity of symptoms and how the disease manifests
itself can vary from person to person. One person may suffer
difficulty breathing, have uncontrollable seizures and/or digestive
problems, while another may not be able to walk, talk, see or hear.

'The demonstration by Dr. Chinnery and colleagues that at least one in
200 newborns harbor known pathogenic mitochondrial DNA mutations
indicates that mitochondrial dysfunction is a major underlying risk
factor for human disease,' said Dr. Douglas C. Wallace, Donald Bren
Professor of Molecular Medicine, Director of the Center for Molecular
and Mitochondrial Medicine and Genetics, University of
California-Irvine. 'This new observation augments the rapidly
expanding body of evidence indicating that common mitochondrial DNA
lineages modulate the risk for developing a wide variety of diseases
including diabetes, cardiovascular disease, Parkinson Disease,
Alzheimer Disease, various cancers, as well as longevity.'

The mitochondrial DNA encodes essential genes for mitochondrial energy
production. Therefore, mitochondrial dysfunction represents a major
unexplored area of human biology of vital importance to human health.
Along with the diseases noted above, mitochondrial dysfunction has
been implicated in autoimmune diseases such as multiple sclerosis and
lupus. While it cannot yet be said that mitochondrial dysfunction
causes these problems, it is clear that mitochondria are involved
because their function is measurably disturbed.

'Dr. Chinnery's research raises many new questions - none of which can
be answered without additional dollars allocated for research into
mitochondrial disease and dysfunction, ' said Mohan. 'This line of
research holds great promise. Ultimately, the investment we make may
enable doctors and researchers to transform medicine, benefiting not
only those suffering from mitochondrial disease, but the many millions
of Americans who suffer from the wide range of diseases related to
mitochondrial dysfunction. '

Dr. Chinnery's study was performed on 3000 randomly ascertained
neonatal cord blood samples, screening for ten specific DNA mutations
related to mitochondrial disease. The study's findings establish that
the incidence of new mutations and the frequency of asymptomatic
carriers are not rare and emphasize the importance of developing new
approaches to prevent transmission.

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